Fusion gene information | Fusion gene name: ACTB-RIN3 |
Fusion gene ID: hg60tg79890 | | Hgene | Tgene | Gene symbol | ACTB | RIN3 | Gene ID | 60 | 79890 | Gene name | actin beta | Ras and Rab interactor 3 |
Synonyms | BRWS1|PS1TP5BP1 | - |
Cytomap | ('ACTB')('RIN3') 7p22.1 | 14q32.12 |
Type of gene | protein-coding | protein-coding |
Description | actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin | ras and Rab interactor 3RAB5 interacting protein 3ras interaction/interference protein 3 |
Modification date | 20200327 | 20200320 |
UniProtAcc | P60709 | . |
Ensembl transtripts involved in fusion gene | ENST00000331789, ENST00000464611,
| ENST00000331789, ENST00000464611,
|
Fusion gene scores | * DoF score | 68 X 54 X 18=66096 | 15 X 16 X 7=1680 |
# samples | 83 | 18 |
** MAII score | log2(83/66096*10)=-6.31530781862183 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/1680*10)=-3.22239242133645 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 |
Context | PubMed: ACTB [Title/Abstract] AND RIN3 [Title/Abstract] AND fusion [Title/Abstract] |
Most frequent breakpoint | ACTB(5566782)-RIN3(93060461), # samples:1
|
Anticipated loss of major functional domain due to fusion event. | |
Hgene | Tgene |
ACTB
P60709 | . |
FUNCTION: Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). {ECO:0000269|PubMed:29581253, ECO:0000269|PubMed:29925947}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACTB | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ACTB | C1846331 | Juvenile-onset dystonia | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ACTB | C1853623 | Fryns-Aftimos Syndrome | 2 | GENOMICS_ENGLAND |
Hgene | ACTB | C2239176 | Liver carcinoma | 2 | CTD_human |
Hgene | ACTB | C0003129 | Anoxemia | 1 | CTD_human |
Hgene | ACTB | C0003130 | Anoxia | 1 | CTD_human |
Hgene | ACTB | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | ACTB | C0005818 | Blood Platelet Disorders | 1 | GENOMICS_ENGLAND |
Hgene | ACTB | C0007097 | Carcinoma | 1 | CTD_human |
Hgene | ACTB | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human |
Hgene | ACTB | C0013393 | Dysostoses | 1 | CTD_human |
Hgene | ACTB | C0013421 | Dystonia | 1 | CTD_human |
Hgene | ACTB | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Hgene | ACTB | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human |
Hgene | ACTB | C0019193 | Hepatitis, Toxic | 1 | CTD_human |
Hgene | ACTB | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | ACTB | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
Hgene | ACTB | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Hgene | ACTB | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | ACTB | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
Hgene | ACTB | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | ACTB | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human |
Hgene | ACTB | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Hgene | ACTB | C0205696 | Anaplastic carcinoma | 1 | CTD_human |
Hgene | ACTB | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human |
Hgene | ACTB | C0205698 | Undifferentiated carcinoma | 1 | CTD_human |
Hgene | ACTB | C0205699 | Carcinomatosis | 1 | CTD_human |
Hgene | ACTB | C0242184 | Hypoxia | 1 | CTD_human |
Hgene | ACTB | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | ACTB | C0263579 | Pigmented hairy epidermal nevus | 1 | ORPHANET |
Hgene | ACTB | C0265541 | Cranioschisis | 1 | CTD_human |
Hgene | ACTB | C0272183 | Qualitative abnormality of granulocyte | 1 | GENOMICS_ENGLAND |
Hgene | ACTB | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | ACTB | C0393588 | Dystonia, Paroxysmal | 1 | CTD_human |
Hgene | ACTB | C0393610 | Dystonia, Diurnal | 1 | CTD_human |
Hgene | ACTB | C0497552 | Congenital neurologic anomalies | 1 | CTD_human |
Hgene | ACTB | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human |
Hgene | ACTB | C0700292 | Hypoxemia | 1 | CTD_human |
Hgene | ACTB | C0751093 | Dystonia, Limb | 1 | CTD_human |
Hgene | ACTB | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human |
Hgene | ACTB | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human |
Hgene | ACTB | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human |
Hgene | ACTB | C1691779 | Sensory hearing loss | 1 | CTD_human |
Hgene | ACTB | C1858042 | Becker Nevus Syndrome | 1 | ORPHANET |
Hgene | ACTB | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human |
Hgene | ACTB | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Hgene | ACTB | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human |
Hgene | ACTB | C4554007 | Uveoretinal Coloboma | 1 | CTD_human |
Tgene | | C0029401 | Osteitis Deformans | 1 | CTD_human |